Canonical Allele Identifier: CA403591415

Gene: TUBB4A

Linked Data

• gnomAD v4: 19-6495793-C-T
• MyVariant Identifiers: chr19:g.6495804C>T (hg19) ; chr19:g.6495793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495793C>T , CM000681.2:g.6495793C>T	GRCh38
NC_000019.9:g.6495804C>T , CM000681.1:g.6495804C>T	GRCh37
NC_000019.8:g.6446804C>T	NCBI36
NG_033896.1:g.12056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.706G>A MANE Select	ENSP00000264071.1:p.Val236Ile
ENST00000264071.6:c.706G>A	ENSP00000264071.1:p.Val236Ile
ENST00000540257.5:c.706G>A	ENSP00000443590.1:p.Val236Ile
ENST00000594276.5:c.394G>A	ENSP00000472481.1:p.Val132Ile
NM_001289123.1:c.859G>A	NP_001276052.1:p.Val287Ile
NM_001289127.1:c.841G>A	NP_001276056.1:p.Val281Ile
NM_001289129.1:c.706G>A	NP_001276058.1:p.Val236Ile
NM_001289130.1:c.490G>A	NP_001276059.1:p.Val164Ile
NM_001289131.1:c.490G>A	NP_001276060.1:p.Val164Ile
NM_006087.3:c.706G>A	NP_006078.2:p.Val236Ile
NM_006087.4:c.706G>A MANE Select	NP_006078.2:p.Val236Ile
NM_001289123.2:c.859G>A	NP_001276052.1:p.Val287Ile
NM_001289127.2:c.841G>A	NP_001276056.1:p.Val281Ile
NM_001289129.2:c.706G>A	NP_001276058.1:p.Val236Ile
NM_001289130.2:c.490G>A	NP_001276059.1:p.Val164Ile
NM_001289131.2:c.490G>A	NP_001276060.1:p.Val164Ile